Detection of Novel Single Nucleotide Polymorphism in Tyrosine Kinase Gene among Atopic Allergic Individuals in Pakistani Population.

Abstract

"Detection of Novel Single Nucleotide Polymorphism in Tyrosine Kinase Gene among Atopic Allergic Individuals in Pakistani Population" Allergic asthma and allergic rhinitis are airway allergic diseases caused by allergen sensitization. According to WHO, asthma and allergic rhinitis affect about 235 million peoples. As these allergies are multi gene disorder, there is involvement of various genes in the pathogenesis of these allergies. One of the important signaling kinase is spleen tyrosine kinase (Syk) gene. It was selected as this kinase play important role in allergen mediated activation of receptors on the immune cells leading to degranulation and release of various cytokines and chemokines. This study was carried out to detennine the involvement of Syk gene polymorphism in the air way allergies. For this purpose, 228 patients' blood samples were collected from National Institute of Health and Federal Government Hospital Islamabad. While screened blood samples are collected from Blood donor society of Red Crescent Society Islamabad, Pakistan. DNA Extraction was done by using phenol/chlorofonn method while PCR was used for specific exonic regions. Further analysis for genetic variation by SSCP was done. The comorbid disease was prevalent. Males were more effected (52%) and family history was a risk factor. This atopy was significantly associated with smoke (p=0.003), exercise (p= 0.022) weather changes p=0.018. Various socio-demographic risk factors like adult age group and lower socioeconomic status were found to be associated with disease manifestation. In the exonl5, variant observed were not associated to the disease. In exon 15' peak disturbance is needed to verify for possible association of Syk gene and its variant with the disease outcome. There is need to study this gene in larger samples size to confinn its role conclusively in asthma and allergic rhinitis among local population.